Clinical and Molecular Studies in Families With Inherited Eye Disease
Recruiting
Observational Study
Inherited Eye Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Age
4 – 120
Sex
Any
Study type
Observational
Participants needed
5,000 (estimated)
Sponsor
National Eye Institute (NEI) · NIH
Who this trial is looking for
This trial is looking for people aged 4 and older who have an inherited eye disease or a family member with one. Participants will have a medical exam and tests to help identify the genes involved in these conditions.
Are You a Good Fit for This Trial?
You may be able to join if
I am 4 years of age or older.
I understand and can sign the consent form.
I or a family member have an inherited eye disease.
I can cooperate with the study examination.
You may not be able to join if
I have a disease or injury that looks like an inherited eye disease.
I have a serious active infection that needs treatment.
I need sedation for the study.
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Background:
Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.
Objective:
To try to identify the genes linked to the development of inherited eye diseases.
Eligibility:
People ages 4 and older who have or have a family member w…
Background:
Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.
Objective:
To try to identify the genes linked to the development of inherited eye diseases.
Eligibility:
People ages 4 and older who have or have a family member with an inherited eye disease
Design:
Participants will be screened with medical history and medical records.
Participants will have one visit that will take 3-4 hours. This will include:
Medical and family history
Eye exam: This includes the pupil being dilated.
Electroretinography: A small electrode is taped to the forehead. Participants sit in the
dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in
the eyes. They will watch flashing lights.
Blood tests
Saliva sample: They will spit into a container or have the inside of their cheek swabbed.
Genetic testing will be done on participants blood or saliva.
Participants may meet with the researchers to discuss their genetic tests.
Trial Locations
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Status
Eligibility Criteria
* INCLUSION CRITERIA:
To be eligible, the following inclusion criteria must be met, where applicable;
1. Participant must be four years of age or older.
2. Participant must understand and sign the protocol s informed consent document.
3. Individuals or family members of individuals with inherited …
* INCLUSION CRITERIA:
To be eligible, the following inclusion criteria must be met, where applicable;
1. Participant must be four years of age or older.
2. Participant must understand and sign the protocol s informed consent document.
3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
4. All participants must be able to cooperate with study examination and phlebotomy.
EXCLUSION CRITERIA:
A participant is not eligible if any of the following exclusion criteria are present:
1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
3. Participant requires sedation for study purposes.
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